掌跖角化症1家系TRPV3基因突变报告

doi:10.35541/cjd.20220075

Chinese Journal of Dermatology ›› 2025, Vol. 58 ›› Issue (3): 258-259.doi: 10.35541/cjd.20220075

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A mutation in the TRPV3 gene in a family with palmoplantar keratosis

Zhou Xin, Xu Xia, Chen Quan, Tian Xin

Department of Dermatology, Guangzhou Institute of Dermatology, Guangzhou 510095, China

Received:2022-01-28 Revised:2023-04-06 Online:2025-03-15 Published:2025-03-07
Contact: Zhou Xin E-mail:rain0504@sina.com
Supported by:
Guangzhou Basic Research Plan Program（SL2022A03J01447）

Abstract

Zhou Xin, Xu Xia, Chen Quan, Tian Xin. A mutation in the TRPV3 gene in a family with palmoplantar keratosis[J]. Chinese Journal of Dermatology, 2025, 58(3): 258-259.doi:10.35541/cjd.20220075

References ［9］

［1］	He Y, Zeng K, Zhang X, et al. A gain⁃of⁃function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family［J］. J Invest Dermatol, 2015,135（3）:907⁃909. doi: 10.1038/ jid.2014.429.
［2］	Lin Z, Chen Q, Lee M, et al. Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome［J］. Am J Hum Genet, 2012,90（3）:558⁃564. doi: 10.1016/j.ajhg.2012.02.006.
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［4］	卢建, 胡蓉, 刘玲, 等. 一例Olmsted综合征患儿的临床及基因变异分析［J］. 中华医学遗传学杂志, 2021,38（7）:4. doi: 10.3760/cma.j.cn511374⁃20200811⁃00597.
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［6］	朱学骏, 王宝玺, 孙建方, 等. 皮肤病学［M］. 4版. 北京: 北京大学医学出版社, 2019:1025⁃1026.
［7］	Zhong W, Hu L, Cao X, et al. Genotype⁃phenotype correlation of TRPV3⁃related Olmsted syndrome［J］. J Invest Dermatol, 2021,141（3）:545⁃554. doi: 10.1016/j.jid.2020.06.035.
［8］	Ni C, Yan M, Zhang J, et al. A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome［J］. Sci Rep, 2016,6:21815. doi: 10.1038/srep21815.
［9］	Wilson NJ, Cole C, Milstone LM, et al. Expanding the phenotypic spectrum of Olmsted syndrome［J］. J Invest Dermatol, 2015,135（11）:2879⁃2883. doi: 10.1038/jid.2015.217.

A mutation in the TRPV3 gene in a family with palmoplantar keratosis

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